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This rather infrequently used eponym denotes the association of brittle bones and blue sclerae, with absence of deafness. It is an inherited disorder characterised by extreme fragility of bones that begins in childhood.

Description

This rather infrequently used eponym denotes the association of brittle bones and blue sclerae, with absence of deafness. It is an inherited disorder characterised by extreme fragility of bones that begins in childhood. Clinical findings are multiple fractures with minimal trauma, blue sclerae, early deafness, opalescent teeth, tendency to capillary bleeding, translucent skin, laxity of ligaments, and joint instability. Face is small and triangular. Most cases autosomal dominant, a small part is autosomal recessive. Ekman-Lobstein is an adult form. Vrolik’s disease is an infantile, recessive and lethal form.

The earliest example of the condition is the skeleton of an Egyptian mummy dating from about 1,000 BC, which is preserved in the British Museum. An abnormal femur from an Anglo-Saxon burial ground of the seventh century might also represent the disorder. There is also evidence to suggest that Ivor the Boneless, who led the Viking invasion of England in the ninth century, could have been affected. Two centuries later, Ivor's skeleton was exhumed and burnt by William the Conqueror; so objective diagnostic criteria no longer exist.

Olof Jakob Ekman described osteogenesis imperfecta in 1788, in a doctoral thesis for the University of Uppsala. He described a family in which persons in three generations had a condition that he termed "osteomalacia congenita". In 1826 Ch. F. Sartorius mentioned it in his doctoral dissertation. In 1831 Edmund Axmann of Westheim, Germany, documented the condition in himself and two brothers, mentioning that they had blue sclerae and a tendency to dislocations and fractures. Jean Fréderic Lobstein in 1833 mentioned the adult form of osteogenesis imperfecta, terming the condition "osteopsathyrosis idiopathica". Willem Vrolik in Groningen made subsequent descriptions in 1849 and 1854, and in 1905 by Charles Porak and Gustave Durante in Paris. Lobstein's successors at Strasbourg maintained interest in the disorder and in 1889 Heinrich Stilling (1853-1911) published an account of the histopathological features, while in 1897 Martin Benno Schmidt (1863-1949) suggested that the newborn and adult forms represented the same entity.

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